Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms.

Background: Newborn screening (NBS) for cystic fibrosis (CF) was universally implemented in the United States in 2010 to improve disease outcomes. Despite universal screening, disparities in outcomes currently exist between people with CF (PwCF) with Black/African, Asian, Indigenous, and Latino/Hispanic ancestry in comparison to PwCF of European ancestry. This is in part because CFTR panels used for newborn screening are often based on variants common in European ancestries leading to higher rates of false negatives for PwCF from minoritized racial and ethnic groups.

Expanding Genetic Counselor Roles: A Model for Global Research Development.

Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities.

Methods: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children's Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position.

Assessment of the Psychosocial Impact of Pancreatic Cancer Surveillance in High-Risk Individuals.

Objectives: Pancreatic cancer (PC) surveillance of high-risk individuals (HRIs) downstages PC and improves survival. However, it remains less clear whether PC surveillance has a positive psychosocial impact on HRIs. Herein, we aimed to define the attitudes and beliefs of HRIs undergoing PC surveillance, and the immediate and sustained psychosocial impact of PC surveillance in HRIs.

Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.

The need for education focusing on genomic technologies and variant interpretation for genetic counseling trainees has prompted genetic counseling training programs to alter their curricula to incorporate this content. Given students' diverse experiences prior to matriculation into genetic counseling training programs, students' familiarity with these topics may vary. Following receipt of feedback from trainees at a large genetic counseling program regarding an existing course focused on molecular technologies, a three-part asynchronous module series was created as a prerequisite to this course as an opportunity to align knowledge.

Telesupervision in genetic counseling education during COVID-19 and beyond.

The COVID-19 pandemic led healthcare organizations to pivot to telemedicine, precipitating the shift to telesupervision, defined as supervision over video-conferencing platforms and telephone, for genetic counseling students. This study aimed to (1) characterize the impact of the COVID-19 pandemic on genetic counseling supervision, (2) ascertain genetic counseling supervisor experiences with telesupervision, and (3) examine the association between years of genetic counseling experience and preferences related to supervision modality. Certified genetic counselors were recruited through the National Society of Genetic Counselors (NSGC), Pennsylvania Association of Genetic Counselors (PAGC), and Association of Genetic Counseling Program Directors (AGCPD) listservs and by purposive sampling via emails to Genetic Counseling Program Directors in program-rich regions.

The influence of licensure on ABGC certification examination outcomes.

The genetic counseling field established ABGC certification and state licensure as professional standards for practice. All current state licensure laws require passing the ABGC certification examination, although states differ in their requirements regarding how soon after graduation the examination must be taken. Graduates in states without licensure can schedule the certification examination at their preference.

Paid summer undergraduate internships are one strategy to increase diversity in genetic counseling.

The genetic counseling profession has attempted to enhance the diversity of its workforce since its inception but does not yet reflect the demographics of the United States. One barrier to entry into genetic counseling programs may be the ability to gain exposure to the profession prior to applying for entry. Many applicants participate in unpaid shadowing experiences, which could be a limitation to students from underrepresented backgrounds who may be less familiar with the field or who cannot forgo a salary.

Incorporating telehealth education into the genetic counseling curriculum.

As the provision of telehealth genetic counseling (THGC) services continues to expand, it is imperative that genetic counseling students gain proficiency in telehealth service delivery. To prepare students to provide THGC services, the MSGC program at the University of Pennsylvania has included didactic sessions on THGC, THGC role plays, THGC standardized patient sessions, and THGC fieldwork experiences and clinical rotations. This article highlights best practices in THGC and guidance for Master of Science in Genetic Counseling (MSGC) programs training the next generation of genetic counselors providing THGC services.

Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic.

Background: The study purpose is to compare outcomes associated with completion of genetic testing between telemedicine and in-person gastrointestinal cancer risk assessment appointments during the COVID-19 pandemic.

Methods: Data was collected on patients with scheduled appointments between July 2020 and June 2021 in a gastrointestinal cancer risk evaluation program (GI-CREP) that utilized both telemedicine and in-person visits throughout the COVID-19 pandemic, and a survey was administered.

Results: A total of 293 patients had a GI-CREP appointment scheduled and completion rates of in-person versus telemedicine appointments were similar.

Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease.

Primary mitochondrial disease (PMD) encompasses a heterogeneous group of energy deficiency disorders that are typically progressive, with affected individuals experiencing an average of 16 multisystem symptoms. Clinical trials are emerging, but current treatment options remain limited. In PMD, the effect of specific disease factors and their relationship to meaning-based coping has not been studied.

Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome.

Background: Lynch syndrome (LS) is a hereditary cancer predisposition syndrome associated with increased risk of multiple cancers. While colorectal cancer surveillance decreases mortality in LS and is recommended by guidelines, there is lack of evidence for the efficacy of surveillance for extra-colonic cancers associated with LS, including small intestinal cancer (SIC) and urinary tract cancer (UTC). Given the limited evidence, guidelines do not consistently recommend surveillance for SIC and UTC, and it remains unclear how often individuals will choose to undergo and follow through with extra-colonic surveillance recommendations.

Characterizing standardized patients and genetic counseling graduate education.

Standardized patients (SPs) are laypersons trained to portray patients, family members, and others in a consistent, measurable manner to teach and assess healthcare students, and to provide practice for emotionally and medically challenging cases. SP methodology has been studied with practicing genetic counselors; however, there is minimal empirical evidence characterizing its use in genetic counseling (GC) education. The Accreditation Council for Genetic Counseling (ACGC) Standards of Accreditation for Graduate Programs in Genetic Counseling include SP sessions as one way to achieve up to 20% of the 50 participatory cases required for graduation.

Increasing diversity in the genetic counseling profession: Development of recruitment tools for African American undergraduate students.

Lack of diversity in the genetic counseling profession has been a concern for over 20 years, with the National Society of Genetic Counselors identifying increasing diversity and inclusion as a strategic focus in 2019. Previous research has revealed potential barriers that could explain the low number of diverse applicants to genetic counseling graduate programs. The aims of this pilot study were to test strategies for participation and site recruitment methods for Historically Black Colleges and Universities (HBCUs) and to evaluate the effectiveness of a brief presentation tailored to African American students.

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Hypocalcemia has been reported in ~50% of patients 22q11.2DS and calcium regulation is known to play a role in neuronal development and synaptic plasticity. Because calcium ions play a role in neuronal function and development, we hypothesized that hypocalcemia would be associated with adverse effects on full scale IQ index (FSIQ) in patients with 22q11.

Association of airway abnormalities with 22q11.2 deletion syndrome.

Introduction: 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues.

Professional Issues of International Genetic Counseling Students Educated in the United States.

International students have unique personal and academic challenges during their training in genetic counseling programs across the United States (U.S.).

An Exploratory Study of Employers' Attitudes Towards a Clinical Doctorate in Genetic Counseling.

Creation of an advanced degree in genetic counseling has been considered since the early 1980s. The Genetic Counseling Advanced Degree Task Force (GCADTF) was convened in 2012 to formally explore the potential suitability of a clinical doctorate (ClinD), though employer perspectives of advanced training were not part of the discussion. The conclusion of this group was that the field was not ready to move to an entry-level clinical doctorate at this time but that further education and research among other stakeholders was necessary (Nagy et al.

An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.

Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing.

Genetic risk perception and reproductive decision making among people with epilepsy.

We investigated estimated offspring risk among people with epilepsy and factors important in the family-planning process. Data were collected for 88 participants using a questionnaire assessing perceived risk of offspring to develop epilepsy, importance of factors in the reproductive decision-making process, decision to have fewer children, and association between risk perception and family planning decisions. Thirty-four percent of participants had fewer children because of their epilepsy.

Exploring genetic counselors' perceptions of and attitudes towards schizophrenia.

Schizophrenia is a common complex condition, for which no genetic testing is yet clinically available. Genetic counseling for psychiatric disorders is viewed by genetic counselors as a growth area, and to meet any increase in demand it is important to understand existing context. Thus, we surveyed general practice members of the National Society of Genetic Counselors, to examine perceptions and attitudes relating to schizophrenia.

Why me? Why not me?

: The decision to undergo BRCA testing is very complex and emotionally laden. This decision can be further complicated by the loss of a mother at an early age. The following personal account by a genetic counselor discusses the testing process and the struggle to accept the results and reframe one's self-identity.